A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5866920



Internal ID22641855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102185631..102197330hg38UCSC Ensembl
chr12:102579409..102591108hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3811700
hg1911700
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17450975
Samples
Known GenesPARPBP, PMCH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5866920
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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